(September 11, 2008 - Insidermedicine) Welcome to Insidermedicine's If I Had, where we get a chance to ask an expert what they would do if they had a medical condition.
At the recent American Thoracic Society conference in Toronto, we caught up with Dr. Larry Lands, MD, PhD, who is the Director of Pediatric Respiratory Medicine at The Montreal Children's Hospital at McGill University Health Centre, and a Professor of Pediatrics at McGill University.

If my child had recurrent or persistent chest infections…
Well if my child had recurrent or persistent chest infections meaning they were coughing, wheezing, maybe producing secretions. Certainly after the second time or if my child didn’t get better in between. That’s the time that I would want to speak to my family doctor or my pediatrician. Other things that I would want to take note of are: is my child growing well, do they seem to be gaining weight the way that other children are, what’s their appetite like, do they have normal stool, are their stools particularly large, or particularly fowl smelling. These would all be suggestions that things aren’t quite normal and I would need to think of cystic fibrosis. The other way I have seen children present is if they are losing large amounts of salt. So if when I kiss my child they taste very salty then I would need to consider that. The other thing that we have to keep in mind with cystic fibrosis is that it is an inherited disease. So certainly if there was a family history on either my side or my spouses side, then I would want to investigate that.

What is cystic fibrosis?
CF is an inheritable disorder. It takes genes from both the mother and father. It basically causes very think secretions in the lungs. It causes thick secretions in the intestines and the pancreas. The pancreas doesn’t put out the digestive enzymes that let us break down food and grow properly. It also makes our sweat abnormally salty. Almost five times the amount of salt that we would normally have.

What will the doctor’s assessment involve?
The doctor will definitely want to do a full physical exam. Especially focusing on the chest. The nose should also be looked at. Some children actually develop growths in their nose, or polyps in their nose. That can be a presenting sign and that certainly should make the doctor suspicious and want to investigate more. Certainly older children where the disease had been going on for a long time can get a change in the shape of their nails, called clubbing, that should also be looked for by the doctor. So the doctor would want to do a general exam. We want to examine how the child has been growing and plot out the growth curve and look for those specific signs and symptoms that I mentioned.

What diagnostic tests will be performed?
The doctor will most likely want to do a chest x-ray to get a notion of whether there are secretions or other changes in the chest. But then the doctor will want to move onto diagnostic tests. The standard diagnostic test is a sweat chloride test. Where they put a patch on the child for about a half hour, they stimulate the sweat glands and they collect up the sweat and then measure the chloride; which is a mineral, salt is sodium and chloride; and they measure how much chloride is in the sweat. Other tests that can be done, and are often done, include also genetic testing. Which may be available through your doctor, or may be available through your local cystic fibrosis clinic.

How is cystic fibrosis managed?
There are a variety of approaches and all of them are necessary. There is a heavy focus on nutrition, encouraging a high caloric diet. Most patients need to take enzymes that replace what the pancreas normally does to digest food. They also will take vitamins. Most children will be on some sort of physiotherapy to help clear chest secretions, might be something as simple as clapping. Older children can utilize devices and do it themselves. There is also newer equipment that cause vibration and help the secretions come out. There is a fair amount of use of antibiotics, because the children are at risk for infections. Our therapy up to now has been largely symptomatic, and that’s what we have been talking about, treating the symptoms. However there are exciting newer therapies that are currently under development and under study. Where therapy is going, and where it is exciting, are a variety of therapies under investigation right now in the clinic, meaning in patients, that go directly to the fundamental problem of cystic fibrosis and actually trying to treat or correct the problem. Over the next few years we are going to see marked changes in our approach.
In Summary
If I had a child with chest infections that were happening more than twice a year, especially if my child was not getting better in between. I would appreciate that my doctor would start thinking about cystic fibrosis and investigate it, at least with a sweat test. Obviously if there were other signs, if my child wasn’t growing well, or if we had a family history of cystic fibrosis, then we would want to think of this much sooner. You don’t want things to go on too long because you want to start therapy as early as you can.